title: Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X.
authors.affiliation: Department of Microbiology, Inje University, Kimhae, Korea.
authors.forename: Y S
authors.initials: YS
authors.lastname: Park
authors.forename: C S
authors.initials: CS
authors.lastname: Seoung
authors.forename: S W
authors.initials: SW
authors.lastname: Lee
authors.forename: K H
authors.initials: KH
authors.lastname: Oh
authors.forename: D H
authors.initials: DH
authors.lastname: Lee
authors.forename: J
authors.initials: J
authors.lastname: Yim
mesh_terms: D019943:Amino Acid Substitution; D018388:Codon, Terminator / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007723:Korea; D008297:Male; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology / Q000235:genetics*; D017354:Point Mutation
chemical_list: D018388:Codon, Terminator; D004247:DNA; D010651:Phenylalanine Hydroxylase